R41C (p.Arg41Cys) variant of MYO15A (Unconventional myosin-XV)
R41C (p.Arg41Cys) in MYO15A (Unconventional myosin-XV) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R41C (p.Arg41Cys) variant details
- p.Arg41Cys
- cosmic curated COSV52756
- 1000Genomes rs200234990
- ExAC rs200234990
- TOPMed rs200234990
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 24.50
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available